Term Name: | mitochondrial complex IV deficiency nuclear type 4 |
---|---|
Synonyms: | MC4DN4 |
Definition: | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. |
Ontology: | Human Disease [DOID:0070493] ( DOID:0070493 ) |